Pre­natal dia­gno­stics: what me­thods are available? 

A woman with sta­tu­tory he­alth insu­rance is en­titled to three ul­tra­sound ex­ami­na­tions du­ring her pregnancy, at around the 10th, 20th and 30th week of pregnancy. Even du­ring these rou­tine ex­ami­na­tions, it is hel­pful if the par­ents-to-be have a clear po­si­tion on whe­ther they want to make use of pre­natal dia­gno­stics, be­cause if ab­nor­ma­li­ties are de­tected, de­cis­ions on follow-up ex­ami­na­tions may be ne­ces­sary.

Du­ring the basic ul­tra­sound ex­ami­na­tions, the doctor checks:

• whe­ther it is a single child or a mul­tiple children
• whe­ther the child is de­ve­lo­ping ac­cor­dingly to its age
• whe­ther there are any de­ve­lo­p­mental pro­blems

Du­ring the se­cond ul­tra­sound ex­ami­na­tion, pregnant women can de­cide whe­ther to have an ex­tended ul­tra­sound ex­ami­na­tion or not. The doctor, who needs an ad­di­tional qua­li­fi­ca­tion and spe­cial equip­ment for this, ex­amines the head, neck, torso, breast and back. Only the ad­vanced, non-in­va­sive and in­va­sive me­thods such as neck fold me­a­su­re­ment and am­nio­cen­tesis, are sum­ma­rized under the term pre­natal dia­gno­stics.

The me­thods of pre­natal dia­gno­stics can be di­vided into in­va­sive and non-in­va­sive ex­ami­na­tions. Non-in­va­sive ex­ami­na­tions pose no risk to mo­ther and child, but do not pro­vide a de­si­sive dia­gnosis, only pro­ba­bi­li­ties for di­se­ases or mal­for­ma­tions. The in­va­sive me­thods, which re­quires an in­ter­ven­tion, pro­vides more ac­cu­rate re­sults, but are al­ways as­so­ciated with a risk. For this re­ason, they are usually only used in case of a high pro­ba­bi­lity that the child has a di­sease or di­sa­bi­lity that needs to be cla­ri­fied. You can read more about the in­di­vi­dual me­thods below.

First tri­mester scree­ning: nu­chal fold me­a­su­re­ment and blood test (10th — 14th week of pregnancy)

What is it? First tri­mester scree­ning is a way of fin­ding out the risks of a chro­mo­somal ab­nor­ma­lity such as tri­somy 21. The scree­ning con­sists of the so-called nu­chal fold trans­pa­rency test in com­bi­na­tion with a blood test. A thi­c­kened nu­chal fold and a shor­tened nasal bone as well as cer­tain hor­mone and pro­tein va­lues can be an in­di­ca­tion of a chro­mo­somal ab­nor­ma­lity.

What in­for­ma­tion does the test pro­vide? The first tri­mester scree­ning does not pro­vide a dia­gnosis, but ra­ther in­for­ma­tion about the pro­ba­bi­lity of a chro­mo­somal ab­nor­ma­lity — whereby the age of the pregnant woman as well as the du­ra­tion of the pregnancy are in­cluded in the re­sult. Ho­wever, this is sus­cep­tible: an in­iti­ally con­spi­cuous fin­ding turns out to be a false alarm in 96 out of 100 times. Con­ver­sely, 10 out of 100 ab­nor­ma­li­ties re­main un­de­tected.

What does it cost? The costs vary bet­ween 120 and 200 euros. As a rule of thumb, they are not co­vered by he­alth insu­rance, but it may be worth as­king.

Se­cond tri­mester blood test: risk ana­lysis (pos­sible up to the 20th week)

What is it? In the se­cond tri­mester blood test, cer­tain hor­mones and pro­tein va­lues can pro­vide in­for­ma­tion about tri­so­mies, a neural tube de­fect, an open back or a non-closed ab­do­minal wall.

What in­for­ma­tion does the test pro­vide? As with first tri­mester scree­ning, a sta­tis­tical risk is de­ter­mined. Ho­wever, the se­cond-tri­mester test is less ac­cu­rate than the first-tri­mester scree­ning.

What does it cost? If it is me­di­cally ne­ces­sary, the costs are co­vered by the he­alth insu­rance, other­wise you can ex­pect to pay around 300 euros.

Organ ul­tra­sound and Doppler ul­tra­sound (from the 20th week)

What is it? In spe­cia­lized prac­tices, high-re­so­lu­tion ul­tra­sound can be used to de­tect mal­for­ma­tions from the 13th week on­wards. In ad­di­tion, this so-called organ ul­tra­sound is also re­com­mended bet­ween the 20th and 22nd week. The Doppler ul­tra­sound me­a­sures the blood flow bet­ween the blood ves­sels of mo­ther and child.

What in­for­ma­tion does the ex­ami­na­tion pro­vide? The ex­ami­na­tions pro­vides in­for­ma­tion about ab­nor­ma­li­ties in organ de­ve­lo­p­ment and the supply of the child via the pla­centa. The si­gni­fi­cance of the ex­ami­na­tions de­pend on va­rious fac­tors, such as the po­si­tion of the child in the womb and the ex­pe­ri­ence of the ex­ami­ning doctor.

What does it cost? If there is a me­dical in­di­ca­tion, the he­alth insu­rance com­pa­nies pay the costs. Other­wise, the costs are around 300 euros.

Ge­netic blood test for chro­mo­somal ab­nor­ma­li­ties (from the 10th week)

What is it? For the ge­netic blood test, blood is taken from the mo­ther, which con­tains the ge­netic ma­te­rial of the child. It is par­ti­cu­larly sui­table for high-risk pregnan­cies of women over 35.

What in­for­ma­tion does the test pro­vide? The DNA snip­pets can be used to de­ter­mine the pro­ba­bi­lity of chro­mo­somal ab­nor­ma­li­ties such as tri­somy 21, tri­somy 18 and tri­somy 13. The re­sults are very re­liable, but do not pro­vide a one hundred per­cent re­sult.

What does it cost? The costs vary bet­ween 130 — 540 €, de­pen­ding on the doctor trea­ting you. In ad­di­tion, about 50 — 60 € are charged for the con­sul­ta­tion and blood sam­pling.

Cho­rionic villus sam­pling or pla­centa punc­ture (11th to 14th week)

What is it? Usually, tissue from the pla­centa is re­moved th­rough the ab­do­minal wall, ra­rely the pro­ce­dure is done th­rough the va­gina.

What in­for­ma­tion does the ex­ami­na­tion pro­vide? The re­sults pro­vide re­liable in­for­ma­tion about chro­mo­somal ab­nor­ma­li­ties and her­edi­tary di­se­ases.

Risk: A pla­centa punc­ture leads to a mis­car­riage in one to four out of 200 pregnan­cies.

Am­nio­cen­tesis (from the 15th week)

What is it? The doctor re­moves am­niotic fluid con­tai­ning foetal cells th­rough the ab­do­minal wall using a hollow needle. These cells are then mul­ti­plied and ex­amined in the la­bo­ra­tory.

What in­for­ma­tion does the ex­ami­na­tion pro­vide? Am­nio­cen­tesis can de­tect her­edi­tary di­se­ases, chro­mo­somal ab­nor­ma­li­ties and neural tube de­fects.

Risk: After an am­nio­cen­tesis, one in 200 women suf­fers a mis­car­riage.

Um­bi­lical cord punc­ture, me­di­cally called cordocentesis/chorocentesis (from the 18th week).

What is it? Blood is taken from the um­bi­lical cord of the baby. The pro­ce­dure is done th­rough the mo­ther’s ab­do­minal wall.

What in­for­ma­tion does the test pro­vide? The punc­ture of the um­bi­lical cord can de­tect in­fec­tions, an­aemia, blood group in­com­pa­ti­bi­lity and chro­mo­somal ab­nor­ma­li­ties. It is also used to va­li­date the ab­normal re­sults of an am­nio­cen­tesis.

Risk: One to three um­bi­lical cord punc­tures out of 100 re­sult in a mis­car­riage.

Pre­natal care is part of the ever­yday life in German gy­nae­co­lo­gists’ sur­ge­ries. Ul­tra­sound ex­ami­na­tions, which are paid for by he­alth insu­rance com­pa­nies, pro­vide in­for­ma­tion about the de­ve­lo­p­ment of the un­born child and can give in­itial in­di­ca­tions of di­se­ases and mal­for­ma­tions. If the pregnancy pro­ceeds nor­mally, no fur­ther ex­ami­na­tions are usually ne­ces­sary. Nevert­heless, more and more pregnant women are being of­fered fur­ther ex­ami­na­tions as in­di­vi­dual he­alth ser­vices. Weigh in the be­ne­fits carefully: Non-in­va­sive me­thods do not pro­vide clear re­sults, but only pro­ba­bi­li­ties. Un­clear re­sults can re­quire you to make far-rea­ching de­cis­ions. The rule of thumb “have as few ex­ami­na­tions as ne­ces­sary” to  pro­tect ex­pac­ting par­ents from un­neces­sary un­cer­tainty.

At Fer­tilly, we have made it our mis­sion to ac­com­pany cou­ples (ho­mo­se­xual and he­te­ro­se­xual) and sin­gles on the way to ful­fil­ling their child wish. In doing so, it is im­portant to us to create trans­pa­rency in the area of fer­ti­lity ser­vices, to pro­vide in­for­ma­tion and know­ledge on the to­pics of pregnancy and fer­ti­lity and to help you to find the most sui­table Fer­ti­lity Center. Th­rough co­ope­ra­tion with first-class Fer­ti­lity Cen­tres and cli­nics in Eu­rope, en­qui­ries about Fer­tilly are given pre­fe­ren­tial tre­at­ment. This means that our pa­ti­ents avoid the usually long wai­ting times and get ap­point­ments more quickly.

If you would like more in­for­ma­tion about Fer­ti­lity Cen­ters, suc­cess rates and prices, please contact us using this ques­ti­on­n­aire. We will ad­vise you free of charge and wi­t­hout any ob­li­ga­tion.